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Test Code BGABS Beta-Galactosidase, Blood Spot

Reporting Name

Beta-Galactosidase, BS

Useful For

Diagnosis of beta-galactosidase deficiency (GM1 gangliosidosis, Morquio B disease and galactosialidosis) in blood spot specimens

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Specimen Type

Whole blood


Necessary Information


Provide a reason for referral with each specimen.



Specimen Required


Supplies: Card-Blood Spot Collection (Filter Paper) (T493)

Container/Tube:

Preferred: Blood spot collection card (T493)

Acceptable: Ahlstrom 226 Filter Paper and Whatman Protein Saver 903 Paper

Specimen Volume: 2 blood spots

Collection Instructions:

1. An alternative blood collection option for a patient >1 year of age is fingerstick.

2. Let blood dry on the filter paper at ambient temperature in a horizontal position for 3 hours.

3. Do not expose specimen to heat or direct sunlight.

4. Do not stack wet specimens.

5. Keep specimen dry.

Additional Information:

1. For collection instructions in Spanish, see Blood Spot Collection Card-Spanish Instructions (T777) in Special Instructions.

2. For collection instructions in Chinese, see Blood Spot Collection Card-Chinese Instructions (T800) in Special Instructions.


Specimen Minimum Volume

Blood spot: 1

Specimen Stability Information

Specimen Type Temperature Time Special Container
Whole blood Ambient (preferred) 28 days FILTER PAPER
  Frozen  90 days FILTER PAPER
  Refrigerated  90 days FILTER PAPER

Reference Values

≥5.0 nmol/hour/mL

An interpretive report will be provided.

Day(s) and Time(s) Performed

Varies

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

CPT Code Information

82657

LOINC Code Information

Test ID Test Order Name Order LOINC Value
BGABS Beta-Galactosidase, BS 55916-1

 

Result ID Test Result Name Result LOINC Value
60986 Beta-Galactosidase, BS 55916-1
34430 Interpretation 69047-9
34429 Reason for Referral 42349-1
34431 Reviewed By 18771-6

Reject Due To

Blood spot Shows serum rings or has multiple layers

Method Name

Fluorometric Enzyme Assay

Forms

1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available in Special Instructions:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. Biochemical Genetics Patient Information (T602) in Special Instructions.

3. If not ordering electronically, complete, print, and send an Inborn Errors of Metabolism Test Request (T798) with the specimen.

Testing Algorithm

See Lysosomal Storage Disorders Diagnostic Algorithm, Part 1 in Special Instructions.